Contents
Introduction
Inheritance
Prevalence
Mechanism
Symptoms and Treatments
Pedigree
References
Description
Sickle cell anaemia is an autosomal genetic disorder which is characterized by the abrupt and different shapes of red blood cells as the cells turned in to sickle shape. This leads to the abnormal clinical consequences causing severe health complications. The main cause discovered for the disease is the mutation taking place in haemoglobin gene. As the disease progressed, the life shortens and the studies related to disease suggests that average life expectancy reported was 42 and 48 years for males and females respectively (Platt OS, Brambilla DJ, Rosse WF, et al.; June 1994).
The severe complications which can be caused by the disease are Stroke which occurs due to narrow blood vessels, preventing blood supply to brain (Adams RJ, Ohene-Frempong K, Wang W; 2001), silent stroke, Cholelithiasis and cholecystitis, avascular necrosis (MartÃ-Carvajal, A; Dunlop, R; Agreda-Perez, L; Oct, 2004), diminishing immune responses (Kenny MW, George AJ, Stuart J;July,1980), Osteomyelitis (Almeida A, Roberts I; May 2005), leg ulcers (Rudge FW;1991), Acute papillary necrosis, pulmonary hypertension (Gladwin MT, Sachdev V, Jison ML, et al.;February 2004), chronic renal failure (Powars DR, Elliott-Mills DD, Chan L, et al.;Oct 1991) etc. So these all these complications lead to shorten the life expectancy.